A Child With Hereditary Spherocytosis Associated With Von Willebrand's Disease: A Case Report From Saudi Arabia

沙特阿拉伯一例患有遗传性球形红细胞增多症合并血管性血友病的儿童病例报告

阅读:1

Abstract

Von Willebrand disease (VWD) is an autosomal inherited hemostasis disorder caused by a deficiency or defect in the blood protein known as von Willebrand factor, which is necessary for platelets to adhere to damaged vessel walls. The main symptoms of the condition include spontaneous bleeding from mucosal membranes, excessive wound bleeding, and menorrhagia in girls. On the other hand, hereditary spherocytosis (HS) is a heterogeneous group of diseases that damage red blood cells, with clinical manifestations depending on the different membrane protein-encoding gene mutations, their different functional consequences, and the mechanism of inheritance. It is typically characterized by the presence of jaundice, anemia, and splenomegaly. Here, we report a novel pathogenic mutation in a child with HS that led to hemolytic anemia since the age of two years associated with recently discovered type 1 VWD, as we were unable to find any cases that have been previously reported to have HS associated with VWD. According to our analysis of the literature, there is no definitive link between the two hematological disorders.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。